18th November 2016, Volume 129 Number 1445

Nikki Earle, Jackie Crawford, Kate Gibson, Donald Love, Ian Hayes, Katherine Neas, Martin Stiles, Mandy Graham, Tom Donoghue, Andrew Aitken, Jon Skinner

The sudden cardiac death (SCD) of a young person is a devastating event, with the incidence estimated at between one to seven deaths per 100,000 people per year in in…

Subscriber content

The full contents of this page is only available to subscribers.

To view this content please login or subscribe

Summary

Sudden unexpected cardiac death in young people (aged 1–40) occurs at a rate of over 100 people per year in New Zealand. To date, we know that about one-third have a familial cause, and death can be prevented in these people, but they must first be detected in the community. This study shows that by screening family members of people who carry such a condition, with blood tests and heart tests, it is possible to detect large numbers of people at risk and offer them protection. It also shows that this is being done much better in the North Island than the South Island, because the South Island does not have anyone to coordinate the service and keep records. The authors argue that there is a pressing need for a South Island coordinator to address this inequity of service.

Abstract

Aim

To investigate regional variations in the detection of sudden death syndromes across New Zealand by assessing registrations in the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ).

Method

The CIDRNZ has been a national entity since 2009, with a hub in Auckland and locally funded regional coordinators (Midland, Central) linked with multidisciplinary cardiac genetic teams. Registration is consent-based and voluntary, and involves the collection of clinical/genetic information and permits genetic testing and research. Registry data were extracted from the CIDRNZ in October 2015 and results are expressed as registrations per 100,000 people by district health board area.

Results

The CIDRNZ has 1,940 registrants from 712 families, 46% of whom are definitely or probably affected by cardiac inherited disease. There are clear regional differences in registration frequencies between regions and between the North and South Islands, both for overall registrations (56/100,000 and 14/100,000, respectively; p<0.001) and for long QT syndrome registrations (15/100,000 and 6/100,000, respectively; p<0.001). Regions with local coordinators have the highest number of registrations.

Conclusion

The detection of sudden death syndromes in New Zealand through a cardiac genetic registry is possible but much work is needed to improve regional variation in the detection/reporting of these conditions across the country.

Author Information

Nikki Earle, Department of Medicine, University of Auckland, Auckland; Jackie Crawford, Paediatric and Congenital Cardiac Services, Starship Children’s Hospital, New Zealand; Kate Gibson, Genetic Health Service NZ - South Island Hub, Christchurch Hospital, Christchurch; Donald Love, Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland; Ian Hayes, Genetic Health Service NZ – Northern Hub, Auckland City Hospital, Auckland; Katherine Neas, Genetic Health Service NZ – Central Hub, Wellington Hospital, Wellington; Martin Stiles, Department of Cardiology, Waikato Hospital, New Zealand; Mandy Graham, Department of Cardiology, Waikato Hospital, New Zealand; Tom Donoghue, Department of Cardiology, Wellington Hospital, Wellington; Andrew Aitken, Cardiologist, Department of Cardiology, Wellington Hospital, Wellington; Jon Skinner, Department of Paediatrics, Waikato Hospital, New Zealand.

Acknowledgements

The Cardiac Inherited Diseases Group is generously supported by Cure Kids. The Heart Trust (Waikato and Bay of Plenty) funded CIDRNZ in the Midland region for the first two years.

Correspondence

Dr Jonathan R Skinner, Department of Paediatrics, Waikato Hospital, New Zealand.

Correspondence Email

jskinner@adhb.govt.nz

Competing Interests

Nil.

References

  1. Eckart RE, Shry EA, Burke AP, et al. Sudden death in young adults: An autopsy-based series of a population undergoing active surveillance. J Am Coll Cardiol. 2011; 58:1254–61.
  2. Shen WK, Edwards WD, Hammill SC, Bailey KR, Ballard DJ, Gersh BJ. Sudden unexpected nontraumatic death in 54 young adults: A 30-year population-based study. Am J Cardiol. 1995; 76:148–52.
  3. Meyer L, Stubbs B, Fahrenbruch C, et al. Incidence, causes, and survival trends from cardiovascular-related sudden cardiac arrest in children and young adults 0 to 35 years of age: A 30-year review. Circulation. 2012; 126:1363–72.
  4. Behr E, Wood DA, Wright M, et al. Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet. 2003; 362:1457–9.
  5. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007; 49:240–6.
  6. Semsarian C, Hamilton RM. Key role of the molecular autopsy in sudden unexpected death. Heart Rhythm. 2012; 9:145–50.
  7. Priori SG, Blomstrom-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death the Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC) Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015; 36:2793–867l.
  8. Skinner JR, Van Hare GF. Routine ECG screening in infancy and early childhood should not be performed. Heart Rhythm. 2014; Dec; 11(12):2322–7.
  9. Saul JP, Schwartz PJ, Ackerman MJ, Triedman JK. Rationale and objectives for ECG screening in infancy. Heart Rhythm. 2014; Dec; 11(12):2316–21.
  10. Earle N, Crawford J, Smith W, et al. Community detection of long QT syndrome with a clinical registry: An alternative to ECG screening programs? Heart Rhythm. 2013; 10:233–8.
  11. Schwartz PJ, Stramba-Badiale M, Crotti L, et al. Prevalence of the congenital long-QT syndrome. Circulation. 2009; 120:1761–7.
  12. Statistics New Zealand. 2013 Census district health board tables. Edition., cited 7 October 2015 2015]. Available from: http://www.stats.govt.nz/Census/2013-census/data-tables/dhb-tables.aspx
  13. Ingles J, Zodgekar PR, Yeates L, Macciocca I, Semsarian C, Fatkin D. Guidelines for genetic testing of inherited cardiac disorders. Heart Lung Circ. 2011; 20:681–7.
  14. Bradley T, Dixon J, Easthope R. Unexplained fainting, near drowning and unusual seizures in childhood: Screening for long QT syndrome in New Zealand families. N Z Med J. 1999; 112:299–302.
  15. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. New Engl J Med. 2003; 348:1866–74.
  16. O’Mahony C, Elliott PM. Prevention of sudden cardiac death in hypertrophic cardiomyopathy. Heart. 2014; 100:254–60.
  17. Waddell-Smith KE, Donoghue T, Oates S, et al. Inpatient detection of cardiac-inherited disease: the impact of improving family history taking. Open Heart. 2016; 3.
  18. Skinner JR, Crawford J, Smith W, et al. Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm. 2011; 8:412–9.
  19. Glengarry JM, Crawford J, Morrow PL, Stables SR, Love DR, Skinner JR. Long QT molecular autopsy in sudden infant death syndrome. Arch Dis Child. 2014; 99:635–40.
  20. Skinner J, Morrow PL. Cardiac genetic investigation of sudden cardiac death: advances and remaining limitations. Research and Reports in Forensic Medical Science. 2015; 5:7–15.

Download

The downloadable PDF version of this article is only available to subscribers.

To view this content please login or subscribe